Canonical Allele Identifier: CA1111451075
Gene: NAT2 HGNC NCBI

Linked Data

dbSNP Id: rs917236602
gnomAD v3: 8-18393371-C-A
gnomAD v4: 8-18393371-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18393371C>A , CM000670.2:g.18393371C>A GRCh38
NC_000008.10:g.18250881C>A , CM000670.1:g.18250881C>A GRCh37
NC_000008.9:g.18295161C>A NCBI36
NG_012246.1:g.7127C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000286479.4:c.-7+2026C>A MANE Select ENSP00000286479.3:n.-7+2026C>A
ENST00000286479.3:c.-7+2026C>A ENSP00000286479.3:n.-7+2026C>A
ENST00000520116.1:c.-58+2026C>A ENSP00000428416.1:n.-58+2026C>A
NM_000015.2:c.-7+2026C>A NP_000006.2:n.-7+2026C>A
XM_011544358.1:c.-7+635C>A XP_011542660.1:n.-7+635C>A
XM_017012938.1:c.-7+6335C>A XP_016868427.1:n.-7+6335C>A
NM_000015.3:c.-7+2026C>A MANE Select NP_000006.2:n.-7+2026C>A
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